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Titolo:
Clinical findings and diagnostic approach in CADASIL
Autore:
Dichgans, M; Gasser, T;
Indirizzi:
Univ Munich, Klinikum Grosshadern, Neurol Klin, D-81377 Munich, Germany Univ Munich Munich Germany D-81377 Neurol Klin, D-81377 Munich, Germany
Titolo Testata:
AKTUELLE NEUROLOGIE
fascicolo: 6, volume: 26, anno: 1999,
pagine: 260 - 269
SICI:
0302-4350(199910)26:6<260:CFADAI>2.0.ZU;2-6
Fonte:
ISI
Lingua:
GER
Soggetto:
AUTOSOMAL-DOMINANT ARTERIOPATHY; EPIDERMAL GROWTH-FACTOR; FAMILIAL HEMIPLEGIC MIGRAINE; WHITE-MATTER ABNORMALITIES; MULTI-INFARCT DEMENTIA; SUBCORTICAL INFARCTS; LEUKOENCEPHALOPATHY CADASIL; MAGNETIC-RESONANCE; NOTCH3 MUTATIONS; FABRYS-DISEASE;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
79
Recensione:
Indirizzi per estratti:
Indirizzo: Dichgans, M Univ Munich, Klinikum Grosshadern, Neurol Klin, Marchioninistr15, D-81377Munich, Germany Univ Munich Marchioninistr 15 Munich Germany D-81377 Germany
Citazione:
M. Dichgans e T. Gasser, "Clinical findings and diagnostic approach in CADASIL", AKT NEUROL, 26(6), 1999, pp. 260-269

Abstract

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathyl) has been recognised as a surprisingly frequent mendelian condition causing subcortical strokes in young adults. Many patients develop cognitive deficits and eventually become demented, Up to 40% ofcases suffer from migraine mostly with aura, and additional manifestationshave been mentioned including mood disorders and epileptic seizures. Cerebral magnetic resonance imaging (MRI) reveals diffuse white matter hyperintensities (T-2-weighted images) in conjunction with small circumscribed infarcts located predominantly within the basal ganglia, the thalamus, the periventricular white matter and the pens. Vascular risk factors are usually absent. Diagnosis may be confirmed both by genetic testing and by ultrastructural examination of skin biopsy samples. Presymptomatic testing requires genetic counseling prior to the test.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/09/20 alle ore 12:01:57